Varaico: Literature-Extracted Genetic Variants

GUCY2D

557 papers

RefSeq Summary

This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal si...

Pfam Domains

ANF_receptoraa 72–399UCSCReceptor family ligand binding region

PK_Tyr_Ser-Thraa 550–805UCSCProtein tyrosine and serine/threonine kinase

HNOBAaa 809–865UCSCHeme NO binding associated

Guanylate_cycaa 871–1058UCSCAdenylate and Guanylate cyclase catalytic domain

Gene Aliases

HGNC Name

guanylate cyclase 2D, retinal

HGNC Previous Symbols

CORD6; GUC2D; GUC1A4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000180.4

p.A533A

c.1599C>G

Surrounding Variants

2 papers

NM_000180.4

p.A533insFs

c.1598_1599insT

1 paper

NM_000180.4

p.A533_R534delFs

c.1598_1601del4

1 paper

NM_000180.4

p.S530delFs

c.1590delT

1 paper

NM_000180.4

p.D538delFs

c.1613_1614delAC

2 papers

NM_000180.4

p.I539V

c.1615A>G

2 papers

NM_000180.4

p.R528*

c.1582C>T

9 papers

NM_000180.4

p.R540C

c.1618C>T

1 paper

NM_000180.4

p.S527N

c.1580G>A

1 paper

NM_000180.4

p.R540H

c.1619G>A

2 papers

NM_000180.4

p.G542S

c.1624G>A

1 paper

NM_000180.4

p.Q525*

c.1573C>T

4 papers

NM_000180.4

p.Q525fs

c.1573_1574fs